"Blueprint Genetics"[submitter] AND "RBM20"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636542	NM_001134363.3(RBM20):c.19A>T (p.Met7Leu)	RBM20 (M7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636811	NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu)	RBM20 (Q122E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 222777	NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu)	RBM20 (P204L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 180477	NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)	RBM20 (P340L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 43963	NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)	RBM20 (H343Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +4 more	GConflicting classifications of pathogenicity
Select item 222778	NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter)	RBM20 (W427*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GUncertain significance
Select item 222779	NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val)	RBM20 (I536V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 43978	NM_001134363.3(RBM20):c.1880+4_1880+6dup	RBM20	Duplication (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 270	NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)	RBM20 (R636S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 271	NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)	RBM20 (R636H)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 180478	NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)	RBM20 (G672S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180479	NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg)	RBM20 (G697R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GConflicting classifications of pathogenicity
Select item 222780	NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys)	RBM20 (E725K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180480	NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe)	RBM20 (S740F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 222781	NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg)	RBM20 (G780R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 180481	NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)	RBM20 (P798L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 43992	NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)	RBM20	Deletion	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43995	NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)	RBM20 (D888N)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 180483	NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr)	RBM20 (D1023Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD	GLikely benign
Select item 165048	NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)	RBM20 (P1039S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 634813	NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)	RBM20 (G1160S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222782	NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg)	RBM20 (C1166R)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 180484	NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)	RBM20 (R1182H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +4 more	GConflicting classifications of pathogenicity
Select item 229196	NM_001134363.3(RBM20):c.3574-6C>G	RBM20	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 155830	NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)	RBM20 (P1211L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1DD +2 more	GUncertain significance

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Items: 25